Thoracic Aortic Aneurysm and Dissection
Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders
What is Thoracic Aortic Aneurysm and Dissection?
An aortic aneurysm is the ballooning of a weakened portion of the aorta, the largest artery in the body. Any weakened tissue in the aorta can then lead to tearing in the interior arterial wall—known as an aortic dissection—as well as aortic rupture and massive internal bleeding. Together, this condition is known as Thoracic Aortic Aneurysm and Dissection (TAAD).
Many individuals with aortic aneurysms will have no symptoms throughout their lifetime and may only discover that they have an aneurysm through routine medical screening, for example when they undergo a chest CT scan for a different condition.
What causes Thoracic Aortic Aneurysm and Dissection?
TAAD can be inherited, with up to 20 percent of TAAD patients having an affected first-degree relative. They can occur as an isolated trait, or as a symptom of a connective tissue disease, such as Marfan syndrome, Ehlers-Danlos syndrome or Loeys- Dietz syndrome.
Why test for Thoracic Aortic Aneurysm and Dissection?
Thoracic aneurysms, even when they are large, may not cause symptoms until they rupture. This makes it very important to identify individuals who are at high risk through family history and genetic testing.
Genetic testing for TAAD can confirm the diagnosis of familial TAAD or connective tissue disease, provide information about symptoms you may be experiencing or may experience in the future, and assist with treatment decisions. Genetic test results could also identify family members who are at risk of developing TAAD so they can seek preventative care.
We offer a comprehensive test for genetic causes of TAAD and related disorders. Our TAAD panel includes multiple genes that cause both isolated familial TAAD, as well as other connective tissue diseases that may present as TAAD. With many genes included in this panel, our TAAD test provides comprehensive results that are useful in clarifying the type and cause of TAAD. But the testing of a large number of genes may also identify previously unreported DNA changes of unknown clinical significance.
How does it work?
The genetic test for TAAD and related disorders is a blood test ordered by your physician. Your DNA is extracted from the blood and analyzed by searching specifically for mutations in any genes that are associated with TAAD and any related disorders. The test takes approximately four weeks to complete, and the results will be sent to your physician, who will explain the test results to you.
We will need two tubes of blood (about 7 to 10ml) and a signed consent form from you to send to the laboratory. We recommend genetic counseling before genetic tests are ordered to discuss the implications of the testing and potential results.